Anemia, and Hypoplasia of the corpus callosum

Diseases related with Anemia and Hypoplasia of the corpus callosum

In the following list you will find some of the most common rare diseases related to Anemia and Hypoplasia of the corpus callosum that can help you solving undiagnosed cases.


Top matches:

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Low match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Low match CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME


Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).

CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME Is also known as vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME

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Other less relevant matches:

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14


Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14 Is also known as coxpd14

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

Low match MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2


Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8


Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Low match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Low match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11


COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Low match AICARDI-GOUTIÈRES SYNDROME


Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

AICARDI-GOUTIÈRES SYNDROME Is also known as encephalopathy with basal ganglia calcification|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AICARDI-GOUTIÈRES SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Hypoplasia of the corpus callosum

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Increased serum lactate Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Hypoplasia of the corpus callosum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Acidosis Lactic acidosis Seizures Feeding difficulties Hepatomegaly Respiratory insufficiency Hyperreflexia Cerebral atrophy Hypertonia Thrombocytopenia Progressive neurologic deterioration Hearing impairment Metabolic acidosis Cerebral cortical atrophy Myoclonus Vomiting Ventriculomegaly Strabismus Muscular hypotonia of the trunk Optic atrophy Growth delay Respiratory failure Lethargy Dystonia Encephalopathy Spasticity Irritability Nystagmus Ataxia

Rare Symptoms - Less than 30% cases


Spastic paraplegia Splenomegaly Abnormality of eye movement Abnormality of the nervous system Leukopenia Gait disturbance Visual impairment Cerebellar atrophy Babinski sign Dysarthria Delayed myelination Neonatal hypotonia Epileptic encephalopathy Ragged-red muscle fibers Absent speech Hepatosplenomegaly Ptosis Cardiomyopathy Myopathy Areflexia Muscle weakness Tetraparesis Spastic tetraplegia Brain atrophy Leukoencephalopathy Failure to thrive in infancy Postnatal microcephaly Developmental regression Respiratory distress Abnormal facial shape Poor coordination Severe global developmental delay Porencephalic cyst Severe lactic acidosis Corpus callosum atrophy Pectus excavatum Agenesis of corpus callosum Thrombocytosis Thin upper lip vermilion Arthropathy Unsteady gait Lipoma Basal ganglia calcification Coma Dilatation Broad-based gait Trigonocephaly Spastic diplegia Partial agenesis of the corpus callosum Difficulty running Hemolytic anemia Dry skin Epicanthus Central hypotonia Opacification of the corneal stroma Iron deficiency anemia Palpebral edema Eyelid coloboma Severe vision loss Abnormality of abdomen morphology Increased serum ferritin Developmental stagnation Motor deterioration Decreased light- and dark-adapted electroretinogram amplitude Titubation High palate Esodeviation Cerebral dysmyelination Dysplastic corpus callosum Hoarse cry Progressive psychomotor deterioration Oligosacchariduria Abnormality of mucopolysaccharide metabolism Truncal titubation Abnormality of ganglioside metabolism Hypertelorism Arrhinencephaly Increased serum pyruvate Poor fine motor coordination Lower limb spasticity Aspiration Decreased liver function Fasciculations Severe muscular hypotonia CNS hypomyelination Chronic kidney disease Hyponatremia Hyperkalemia Renal tubular acidosis Hypoventilation Renal dysplasia Increased CSF lactate Breech presentation Tongue fasciculations Microvesicular hepatic steatosis Pain Choreoathetosis Flexion contracture Intellectual disability, profound Feeding difficulties in infancy Skin rash Leukodystrophy Pachygyria Cerebral calcification Short neck Hyperalaninemia CSF lymphocytic pleiocytosis Decreased activity of the pyruvate dehydrogenase complex Periventricular cysts Subependymal cysts Projectile vomiting Poor gross motor coordination Hypertension Peripheral neuropathy Renal insufficiency Plagiocephaly Hyporeflexia Arthrogryposis multiplex congenita Immune dysregulation Hemiplegia/hemiparesis Hepatic steatosis Renal cyst Toe walking Scaling skin Renal hypoplasia Chilblains Abnormality of the foot Proximal tubulopathy Amblyopia Congenital neutropenia Increased bone mineral density Increased body weight Recurrent bacterial infections Increased antibody level in blood Enlarged kidney Anisocytosis Poikilocytosis Extramedullary hematopoiesis Giant platelets Myelofibrosis Neutropenia Delayed speech and language development Wide nasal bridge EEG abnormality Paraplegia Generalized myoclonic seizures Gliosis Neuronal loss in central nervous system Hypsarrhythmia Status epilepticus Aminoaciduria Cerebral visual impairment Autistic behavior Diffuse cerebral atrophy Apnea Dyspnea Ophthalmoplegia Neurodegeneration Optic disc pallor Exotropia Spastic tetraparesis External ophthalmoplegia Stridor Brisk reflexes Abnormality of the periventricular white matter Generalized tonic-clonic seizures Pneumonia Poor speech Abdominal distention Clonus Muscle fibrillation Enterocolitis Fetal distress Prenatal movement abnormality Blindness Immunodeficiency Recurrent infections Atrophy/Degeneration affecting the brainstem Abnormality of the mitochondrion High myopia Muscular hypotonia Prominent forehead Facial palsy Triangular face Short chin Short femoral neck Osteopetrosis Increased head circumference Uncontrolled eye movements Increased density of long bones Cataract Frontal bossing Myopia Reduced visual acuity Skeletal dysplasia Coarse facial features Photophobia Corneal opacity Abnormality of the cerebral white matter Retinal degeneration Retinal dystrophy Esotropia Hydrocephalus Macrocephaly Generalized aminoaciduria Ventricular hypertrophy Type 2 muscle fiber atrophy Mitochondrial encephalopathy Epilepsia partialis continua Scoliosis Motor delay Skeletal muscle atrophy Dysphagia Elevated hepatic transaminase Hypertrophic cardiomyopathy Cirrhosis Left ventricular hypertrophy Sideroblastic anemia Progressive muscle weakness Exercise intolerance Respiratory insufficiency due to muscle weakness Shock Tachypnea Hyperammonemia Abnormality of the coagulation cascade Generalized amyotrophy Ketosis Skeletal myopathy Deep white matter hypodensities



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